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    Research 211–240 of 1000+

    1. Cardiac biopsy in myocarditis The Lancet · 1990 · 2 citations
    2. Successful management of Netherton syndrome using IVIG and dupilumab: A case report Journal of Allergy and Clinical Immunology Global · 2025 · 1 citations
    3. Investigation of the association of the MLPH gene with seasonal canine flank alopecia in Rhodesian Ridgeback dogs Canine Medicine and Genetics · 2024 · 1 citations
    4. Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – “Out of the Woods” Canadian journal of neurological sciences · 2021 · 1 citations
    5. Spreading of Isolated Ptch Mutant Basal Cell Carcinoma Precursors Is Physiologically Suppressed and Counteracts Tumor Formation in Mice International journal of molecular sciences · 2020 · 1 citations
    6. Analysis of R199H Polymorphism of Canine Melanophilin Gene (MLPH) in Population of Czech Pointer in Slovakia DOAJ (DOAJ: Directory of Open Access Journals) · 2011 · 1 citations
    7. [Anejaculation caused by haemosiderosis: male infertility in hereditary haemochromatosis]. PubMed · 2007 · 1 citations
    8. Woodhouse-Sakati Syndrome Due to the Rare DCAF17 c.321+1G>A Mutation: The Second Case Report Worldwide Cureus · 2026
    9. CDH3 Mutation in Saudi Arabia: A Case of Hypotrichosis With Juvenile Macular Dystrophy Cureus · 2026
    10. Genotype-Phenotype Delineation of Autoimmune Polyendocrinopathy, Candidiasis, and Ectodermal Dystrophy in a Pediatric Patient: A Case Report Genes · 2026
    11. Table 1_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx OPAL (Open@LaTrobe) (La Trobe University) · 2025
    12. Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx OPAL (Open@LaTrobe) (La Trobe University) · 2025
    13. An Autosomal Recessive Woolly Hair/Hypotrichosis Case with LIPH Mutation in a Turkish Patient Indian Journal of Dermatology · 2025
    14. Expanding the Senior-Løken syndrome spectrum: Combined Rothmund-Thomson features unveil the distinct Teelwani Syndrome phenotype 2025
    15. INVESTIGATIONS INTO THE ROLE OF THE X-LINKED EPIGENETIC REGULATOR UTX (KDM6A) IN SELF-RENEWING STRATIFYING EPITHELIA Scholarly Commons (University of Pennsylvania) · 2025
    16. Autosomal recessive hereditary hypotrichosis simplex: A case report JAAD Case Reports · 2024
    17. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    18. Alopecia with Vitamin D-Dependent Rickets Type 2 A: A Case Report Clinical, cosmetic and investigational dermatology · 2024
    19. CRISPR/Cas9-mediated Generation of<i>COL7A1</i>-deficient Keratinocyte Model of Recessive Dystrophic Epidermolysis Bullosa bioRxiv (Cold Spring Harbor Laboratory) · 2023
    20. A novel pathogenic variant of NECTIN4 gene in a child with ectodermal dysplasia-syndactyly syndrome Indian dermatology online journal · 2023
    21. Hypotrichosis congenita (KRT71 mutation) in Hereford cattle in Uruguay Pesquisa Veterinária Brasileira · 2023
    22. 307 Phenotypic-genotypic expansion of plectinopathy in a patient with muscular dystrophy and immune-mediated myasthenia gravis 2022
    23. S3507 GI Bleed Leading to Discovery of Hereditary Hemochromatosis The American Journal of Gastroenterology · 2020
    24. 889 Trpv3 gain-of-function mutation impairs differentiation of hair follicle inner root sheath 2019
    25. 420 Severe thiopurine-induced myelotoxicity and hair loss in Japanese patients with NUDT15 gene variant: A retrospective case-control study Journal of Investigative Dermatology · 2018
    26. Hypotrichosis with juvenile macular dystrophy: a case report with molecular study 2018
    27. 475 Paraoxonase 1 (PON1) L55M and Q192R polymorphisms, lipid profiles and psoriasis Journal of Investigative Dermatology · 2017
    28. Genetic characterization of congenital defects in dogs : caudal dysplasia, ectodermal dysplasia and mucopolysaccharidosis VII Helda (University of Helsinki) · 2013
    29. Curly : a new hair defect mutation in the SELH/bc mouse strain 2009
    30. Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation] The Mouseion at the JAXlibrary (Jackson Laboratory) · 2000